| Species : |
Human |
| Source : |
E.coli |
| Tag : |
His |
| Protein Length : |
242-551 a.a. |
| Description : |
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. |
| Conjugation : |
HIS |
| Tissue specificity : |
In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney. |
| Form : |
Lyophilised:Reconstitute with 153 μl aqua dest. |
| Storage buffer : |
Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5 |
| Storage : |
Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
| Sequences of amino acids : |
QQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVD PEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTV VDKWFKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVA VKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKG FLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTI EILREKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKV QPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHFALV VHEQIQYHSTGKSSQRQMVFGVVTAIDLLNFVAAQERD QK |
| Sequence Similarities : |
Belongs to the cysteine synthase/cystathionine beta-synthase family.Contains 1 CBS domain. |